peroxisomal acyl-CoA oxidase deficiency

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peroxisomal acyl-CoA oxidase deficiency2016-11-27T16:31:45+00:00

peroxisomal acyl-CoA oxidase deficiency

METABOLIC DISEASES, PAEDIATRICS

A single-enzyme disorder (OMIM:264470) resulting in increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity.

Clinical findings Mental retardation, leukodystrophy, seizures, mild hepatomegaly, and deafness.

Molecular pathology Defects of ACOX1, which encodes an acyl-CoA oxidase that desaturates acyl-CoAs to 2-trans-enoyl-CoAs, cause pseudoneonatal adrenoleukodystrophy. 

Synonyms Pseudo-NALD, pseudoneonatal adrenoleukodystrophy, straight-chain acyl-CoA oxidase deficiency 

References http://www.uniprot.org/uniprot/Q15067

http://www.omim.org/entry/264470

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